1187249005: VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Neurological lesion\Leucodystrophy\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...
• \Leucodystrophy\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\VPS11-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\VPS11-related autosomal recessive hypomyelinating leucodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4672922017	VPS11-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672926019	VPS11-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672927011	VPS11-related autosomal recessive hypomyelinating leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672928018	VPS11-related autosomal recessive hypomyelinating leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673232012	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673233019	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673234013	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399598014	A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399599018	A rare genetic leucodystrophy identified in families of Ashkenazi Jewish descent, characterised by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672922017	VPS11-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672926019	VPS11-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672927011	VPS11-related autosomal recessive hypomyelinating leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672928018	VPS11-related autosomal recessive hypomyelinating leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673232012	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673233019	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673234013	VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672929014	A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672930016	A rare genetic leucodystrophy identified in families of Ashkenazi Jewish descent, characterised by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399598014	A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399599018	A rare genetic leucodystrophy identified in families of Ashkenazi Jewish descent, characterised by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447271001000118	Hypomyelinisierende Leukodystrophie, VPS11-abhängige, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447271001000118	Hypomyelinisierende Leukodystrophie, VPS11-abhängige, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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